Canonical Allele Identifier: CA238915176
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1029975628
gnomAD v3: 12-65240005-G-A
gnomAD v4: 12-65240005-G-A
MyVariant Identifiers: chr12:g.65633785G>A (hg19) chr12:g.65240005G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240005G>A , CM000674.2:g.65240005G>A GRCh38
NC_000012.11:g.65633785G>A , CM000674.1:g.65633785G>A GRCh37
NC_000012.10:g.63920052G>A NCBI36
NG_016210.1:g.75435G>A
NG_016210.2:g.75435G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1998G>A MANE Select ENSP00000308369.2:p.Met666Ile
ENST00000308330.2:c.1998G>A ENSP00000308369.2:p.Met666Ile
NM_001167614.1:c.1995G>A NP_001161086.1:p.Met665Ile
NM_014319.4:c.1998G>A NP_055134.2:p.Met666Ile
NM_014319.5:c.1998G>A MANE Select NP_055134.2:p.Met666Ile
NM_001167614.2:c.1995G>A NP_001161086.1:p.Met665Ile
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